Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

Journal of neuromuscular diseases - 1 Jan 2000

Kouwenberg Carlyn, Bohm Johann, Erasmus Corrie, van Balken Irene, Vos Sandra, Kusters Benno, Kamsteeg Erik-Jan, Biancalana Valerie, Koch Catherine, Dondaine Nicolas, Laporte Jocelyn, Voermans Nicol

Abstract excerpt

Autosomal dominant centronuclear myopathy (CNM) caused by mutations in the gene coding for amphiphysin-2 (BIN1) typically presents in adulthood with progressive muscle weakness. We report a Dutch family with AD CNM due to a novel BIN1 mutation (c.53T>A (p.Val18Glu)), strongly impairing the membrane tubulation activity of amphiphysin-2. The main features were mild proximal weakness with pronounced myalgia,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genes, Dominant

Share to Myopathies, Structural, Congenital

Share to Nuclear Proteins

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 29103045
DOI: 10.3233/JND-170238

Genes

BIN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.PMID 29103045Read ↗

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.Semantic proximity Read ↗

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutationSemantic proximity Read ↗

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.Semantic proximity Read ↗

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.Semantic proximity Read ↗

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.Semantic proximity Read ↗

Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle.Semantic proximity Read ↗

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Semantic proximity Read ↗

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.Semantic proximity Read ↗

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.Semantic proximity Read ↗

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.Semantic proximity Read ↗

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.Semantic proximity Read ↗

Centronuclear (myotubular) myopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.